| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.81143949T>C | CA118200 | TSHR | c.1891T>C (p.Phe631Leu) c.794T>C c.1612T>C (p.Phe538Leu) n.2086+21244A>G n.853+21244A>G n.854+21244A>G n.865+21244A>G n.861+21244A>G n.855+21244A>G n.2753+21244A>G n.929+21244A>G | ClinVar dbSNP COSMIC |
| 14 | g.81143949T>G | CA390728843 | TSHR | c.1891T>G (p.Phe631Val) c.794T>G c.1612T>G (p.Phe538Val) n.2086+21244A>C n.853+21244A>C n.854+21244A>C n.865+21244A>C n.861+21244A>C n.855+21244A>C n.2753+21244A>C n.929+21244A>C | ClinVar dbSNP COSMIC |
| 14 | g.81143949T= | CA2150076113 | TSHR | c.1891T= (p.Phe631=) c.794T= c.1612T= (p.Phe538=) n.2086+21244A= n.853+21244A= n.854+21244A= n.865+21244A= n.861+21244A= n.855+21244A= n.2753+21244A= n.929+21244A= | dbSNP |